Mutation spectrum of Joubert syndrome and related disorders among Arabs

Những quyển sách tương tự

• Mutation spectrum of Joubert syndrome and related disorders among Arabs
  Bằng: Ben-Salem, Salma, et al.
  Được phát hành: (2014)
• A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation
  Bằng: Ben-Salem, Salma, et al.
  Được phát hành: (2015)
• Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
  Bằng: Ben-Salem, Salma, et al.
  Được phát hành: (2014)
• A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
  Bằng: Ali, Bassam R, et al.
  Được phát hành: (2012)
• A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder
  Bằng: Abdelrahman, Hanadi A., et al.
  Được phát hành: (2019)